Linked Data
ClinVar Variation Id:
747678
ClinVar RCV Id:
RCV001477747
dbSNP Id:
rs1584392832
gnomAD v4:
7-66629133-C-G
MyVariant Identifiers:
chr7:g.66094120C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66629133C>G , CM000669.2:g.66629133C>G | GRCh38 |
| NC_000007.13:g.66094120C>G , CM000669.1:g.66094120C>G | GRCh37 |
| NC_000007.12:g.65731555C>G | NCBI36 |
| NG_028110.1:g.5253C>G | |
| NG_028110.2:g.5253C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275532.8:c.69C>G | ENSP00000275532.4:p.Ala23= | |
| ENST00000449064.6:c.47C>G | ||
| ENST00000503687.2:c.69C>G | ENSP00000421074.1:p.Ala23= | |
| ENST00000638524.1:c.64C>G | ||
| ENST00000638540.1:c.43C>G | ||
| ENST00000639828.2:c.69C>G MANE Select | ENSP00000492240.1:p.Ala23= | |
| ENST00000639879.1:c.69C>G | ENSP00000492161.1:p.Ala23= | |
| ENST00000640385.1:c.69C>G | ENSP00000491193.1:p.Ala23= | |
| ENST00000640851.1:c.69C>G | ENSP00000492577.1:p.Ala23= | |
| ENST00000275532.7:c.69C>G | ENSP00000275532.3:p.Ala23= | |
| ENST00000443322.1:c.69C>G | ENSP00000411624.1:p.Ala23= | |
| ENST00000449064.5:c.69C>G | ENSP00000388463.1:p.Ala23= | |
| ENST00000503687.1:c.69C>G | ENSP00000421074.1:p.Ala23= | |
| NM_001167961.2:c.69C>G | NP_001161433.1:p.Ala23= | |
| NM_153033.4:c.69C>G | NP_694578.1:p.Ala23= | |
| NM_153033.5:c.69C>G MANE Select | NP_694578.1:p.Ala23= |